Incidental Mutation 'R0091:Atp13a4'
| ID |
20242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
9330174J19Rik, 4631413J11Rik |
| MMRRC Submission |
038378-MU
|
| Accession Numbers |
Genbank: NM_001164612, NM_172613, NM_001164613 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
16 |
| Chromosomal Location |
29395853-29544864 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29455395 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 416
(Y416F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039090]
[ENSMUST00000057018]
[ENSMUST00000182013]
[ENSMUST00000182627]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039090
AA Change: Y416F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: Y416F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
143 |
8.4e-31 |
PFAM |
|
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
|
Pfam:E1-E2_ATPase
|
229 |
476 |
1.7e-36 |
PFAM |
|
Pfam:Hydrolase
|
481 |
769 |
3.9e-11 |
PFAM |
|
Pfam:HAD
|
484 |
787 |
4.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
574 |
637 |
1.2e-9 |
PFAM |
|
transmembrane domain
|
824 |
846 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057018
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
142 |
9.6e-34 |
PFAM |
|
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
|
Pfam:E1-E2_ATPase
|
228 |
476 |
1.6e-34 |
PFAM |
|
Pfam:Hydrolase
|
481 |
767 |
1.1e-10 |
PFAM |
|
Pfam:HAD
|
484 |
858 |
3.3e-23 |
PFAM |
|
Pfam:Cation_ATPase
|
573 |
637 |
4.9e-8 |
PFAM |
|
transmembrane domain
|
902 |
924 |
N/A |
INTRINSIC |
|
transmembrane domain
|
934 |
951 |
N/A |
INTRINSIC |
|
transmembrane domain
|
972 |
994 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1023 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1040 |
1057 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1107 |
1126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182013
|
| SMART Domains |
Protein: ENSMUSP00000138583
Gene: ENSMUSG00000038094
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
84 |
4.2e-26 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182573
AA Change: Y54F
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182627
AA Change: Y416F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: Y416F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
143 |
2.1e-29 |
PFAM |
|
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
|
Pfam:E1-E2_ATPase
|
229 |
476 |
3.9e-35 |
PFAM |
|
Pfam:Hydrolase
|
481 |
861 |
4.2e-16 |
PFAM |
|
Pfam:HAD
|
484 |
858 |
1.9e-23 |
PFAM |
|
Pfam:Hydrolase_like2
|
574 |
637 |
2.2e-8 |
PFAM |
|
transmembrane domain
|
902 |
924 |
N/A |
INTRINSIC |
|
transmembrane domain
|
934 |
951 |
N/A |
INTRINSIC |
|
transmembrane domain
|
972 |
994 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1023 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1040 |
1057 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1107 |
1126 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1304 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.9%
- 10x: 94.4%
- 20x: 84.5%
|
| Validation Efficiency |
98% (86/88) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 122,138,530 (GRCm38) |
S278P |
possibly damaging |
Het |
| Adam11 |
A |
G |
11: 102,772,839 (GRCm38) |
Y281C |
probably damaging |
Het |
| Adam6a |
G |
T |
12: 113,544,229 (GRCm38) |
R74L |
possibly damaging |
Het |
| Adcy5 |
T |
C |
16: 35,270,998 (GRCm38) |
|
probably null |
Het |
| Adrb2 |
A |
G |
18: 62,179,019 (GRCm38) |
L245P |
probably benign |
Het |
| Aebp2 |
T |
C |
6: 140,644,074 (GRCm38) |
|
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,452,244 (GRCm38) |
T240A |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,774,046 (GRCm38) |
|
probably benign |
Het |
| Atp5g2 |
A |
C |
15: 102,663,057 (GRCm38) |
L133R |
probably damaging |
Het |
| Bicral |
A |
T |
17: 46,825,307 (GRCm38) |
Y326N |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,030,665 (GRCm38) |
S189G |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 95,763,144 (GRCm38) |
I477N |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,967,506 (GRCm38) |
|
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,766,094 (GRCm38) |
|
probably benign |
Het |
| Dcn |
A |
G |
10: 97,506,689 (GRCm38) |
N169S |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,616,777 (GRCm38) |
|
probably benign |
Het |
| Egln3 |
A |
G |
12: 54,181,646 (GRCm38) |
F225L |
probably benign |
Het |
| Erap1 |
G |
A |
13: 74,668,052 (GRCm38) |
R100Q |
possibly damaging |
Het |
| Erc2 |
A |
T |
14: 27,776,824 (GRCm38) |
|
probably null |
Het |
| Fto |
G |
A |
8: 91,441,807 (GRCm38) |
|
probably null |
Het |
| Gdap1l1 |
C |
T |
2: 163,446,091 (GRCm38) |
P80S |
probably damaging |
Het |
| Gm1123 |
T |
C |
9: 99,023,352 (GRCm38) |
E35G |
possibly damaging |
Het |
| Hhipl1 |
A |
G |
12: 108,321,897 (GRCm38) |
|
probably benign |
Het |
| Ift80 |
A |
T |
3: 68,914,675 (GRCm38) |
L679Q |
probably damaging |
Het |
| Il18 |
A |
G |
9: 50,576,713 (GRCm38) |
|
probably benign |
Het |
| Inhbb |
T |
C |
1: 119,417,395 (GRCm38) |
Y388C |
probably damaging |
Het |
| Kmt2d |
G |
T |
15: 98,844,479 (GRCm38) |
|
probably benign |
Het |
| Krt20 |
A |
G |
11: 99,437,814 (GRCm38) |
V95A |
probably damaging |
Het |
| Lck |
A |
T |
4: 129,555,681 (GRCm38) |
S274R |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,540,979 (GRCm38) |
N4243I |
probably damaging |
Het |
| Lrrfip2 |
G |
A |
9: 111,214,243 (GRCm38) |
V506I |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,793,733 (GRCm38) |
C1000R |
probably damaging |
Het |
| Matn3 |
G |
A |
12: 8,952,105 (GRCm38) |
D106N |
probably damaging |
Het |
| Micalcl |
A |
G |
7: 112,381,296 (GRCm38) |
E49G |
probably benign |
Het |
| Mmadhc |
A |
G |
2: 50,292,857 (GRCm38) |
S36P |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,145,172 (GRCm38) |
Y433H |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,801,610 (GRCm38) |
M525V |
probably benign |
Het |
| Myo5a |
C |
T |
9: 75,161,492 (GRCm38) |
R659C |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,834,439 (GRCm38) |
S171G |
probably benign |
Het |
| Olfr1280 |
T |
A |
2: 111,316,173 (GRCm38) |
D231E |
probably benign |
Het |
| Olfr347 |
A |
G |
2: 36,734,905 (GRCm38) |
N195D |
probably damaging |
Het |
| Olfr998 |
A |
T |
2: 85,591,352 (GRCm38) |
N271Y |
probably benign |
Het |
| P2ry14 |
A |
G |
3: 59,115,893 (GRCm38) |
Y49H |
probably benign |
Het |
| Papss2 |
C |
T |
19: 32,633,902 (GRCm38) |
T17I |
possibly damaging |
Het |
| Pcid2 |
T |
C |
8: 13,085,392 (GRCm38) |
T206A |
probably benign |
Het |
| Pex6 |
A |
G |
17: 46,711,918 (GRCm38) |
E140G |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,384,667 (GRCm38) |
Y220C |
probably damaging |
Het |
| Prdx2 |
T |
G |
8: 84,971,701 (GRCm38) |
|
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,720,661 (GRCm38) |
L471Q |
probably damaging |
Het |
| Rbm33 |
T |
A |
5: 28,352,606 (GRCm38) |
D232E |
possibly damaging |
Het |
| Rnf214 |
T |
A |
9: 45,898,493 (GRCm38) |
|
probably null |
Het |
| Rora |
G |
A |
9: 69,374,048 (GRCm38) |
R314H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,128,936 (GRCm38) |
|
probably benign |
Het |
| Sag |
T |
C |
1: 87,814,680 (GRCm38) |
V58A |
probably damaging |
Het |
| Serpina3i |
C |
T |
12: 104,265,164 (GRCm38) |
T20M |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,277,555 (GRCm38) |
N578S |
probably benign |
Het |
| Soat2 |
A |
G |
15: 102,158,139 (GRCm38) |
Y285C |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,640,733 (GRCm38) |
Y478C |
probably damaging |
Het |
| Syne4 |
G |
A |
7: 30,318,919 (GRCm38) |
G362E |
probably damaging |
Het |
| Tas2r126 |
A |
T |
6: 42,435,102 (GRCm38) |
M190L |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,038,213 (GRCm38) |
H239Y |
probably benign |
Het |
| Ttc19 |
A |
G |
11: 62,309,084 (GRCm38) |
D218G |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,965,436 (GRCm38) |
V629A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 11,088,104 (GRCm38) |
N521D |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,388,970 (GRCm38) |
E405G |
possibly damaging |
Het |
| Usp46 |
C |
T |
5: 74,003,257 (GRCm38) |
R246Q |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,735,204 (GRCm38) |
D469G |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,041,813 (GRCm38) |
I352F |
possibly damaging |
Het |
| Wdr4 |
G |
A |
17: 31,496,916 (GRCm38) |
T398I |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,820,701 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Atp13a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00563:Atp13a4
|
APN |
16 |
29,403,778 (GRCm38) |
splice site |
probably benign |
|
|
IGL01577:Atp13a4
|
APN |
16 |
29,441,284 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01834:Atp13a4
|
APN |
16 |
29,415,777 (GRCm38) |
splice site |
probably benign |
|
|
IGL02165:Atp13a4
|
APN |
16 |
29,434,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02194:Atp13a4
|
APN |
16 |
29,456,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02322:Atp13a4
|
APN |
16 |
29,440,102 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02553:Atp13a4
|
APN |
16 |
29,422,703 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02821:Atp13a4
|
APN |
16 |
29,441,307 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03349:Atp13a4
|
APN |
16 |
29,456,671 (GRCm38) |
missense |
probably benign |
0.01 |
|
G5030:Atp13a4
|
UTSW |
16 |
29,455,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0100:Atp13a4
|
UTSW |
16 |
29,421,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0278:Atp13a4
|
UTSW |
16 |
29,454,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1263:Atp13a4
|
UTSW |
16 |
29,471,953 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1378:Atp13a4
|
UTSW |
16 |
29,420,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1575:Atp13a4
|
UTSW |
16 |
29,409,710 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1720:Atp13a4
|
UTSW |
16 |
29,408,928 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1759:Atp13a4
|
UTSW |
16 |
29,456,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1967:Atp13a4
|
UTSW |
16 |
29,479,854 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2030:Atp13a4
|
UTSW |
16 |
29,422,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Atp13a4
|
UTSW |
16 |
29,441,284 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R3409:Atp13a4
|
UTSW |
16 |
29,413,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3410:Atp13a4
|
UTSW |
16 |
29,413,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4032:Atp13a4
|
UTSW |
16 |
29,418,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4163:Atp13a4
|
UTSW |
16 |
29,541,250 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4652:Atp13a4
|
UTSW |
16 |
29,452,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4772:Atp13a4
|
UTSW |
16 |
29,420,835 (GRCm38) |
intron |
probably benign |
|
|
R4795:Atp13a4
|
UTSW |
16 |
29,490,008 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4898:Atp13a4
|
UTSW |
16 |
29,408,961 (GRCm38) |
nonsense |
probably null |
|
|
R4996:Atp13a4
|
UTSW |
16 |
29,472,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5112:Atp13a4
|
UTSW |
16 |
29,409,868 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5259:Atp13a4
|
UTSW |
16 |
29,456,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,456,604 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,420,888 (GRCm38) |
nonsense |
probably null |
|
|
R5640:Atp13a4
|
UTSW |
16 |
29,415,831 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5809:Atp13a4
|
UTSW |
16 |
29,433,987 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5856:Atp13a4
|
UTSW |
16 |
29,433,987 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5912:Atp13a4
|
UTSW |
16 |
29,456,571 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6282:Atp13a4
|
UTSW |
16 |
29,434,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6404:Atp13a4
|
UTSW |
16 |
29,471,901 (GRCm38) |
nonsense |
probably null |
|
|
R6497:Atp13a4
|
UTSW |
16 |
29,479,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6577:Atp13a4
|
UTSW |
16 |
29,479,841 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6806:Atp13a4
|
UTSW |
16 |
29,469,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7229:Atp13a4
|
UTSW |
16 |
29,420,905 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7438:Atp13a4
|
UTSW |
16 |
29,441,196 (GRCm38) |
missense |
|
|
|
R7493:Atp13a4
|
UTSW |
16 |
29,471,956 (GRCm38) |
missense |
|
|
|
R7712:Atp13a4
|
UTSW |
16 |
29,459,487 (GRCm38) |
missense |
|
|
|
R7739:Atp13a4
|
UTSW |
16 |
29,456,601 (GRCm38) |
missense |
|
|
|
R7897:Atp13a4
|
UTSW |
16 |
29,396,466 (GRCm38) |
missense |
|
|
|
R7950:Atp13a4
|
UTSW |
16 |
29,449,917 (GRCm38) |
missense |
|
|
|
R8217:Atp13a4
|
UTSW |
16 |
29,403,801 (GRCm38) |
missense |
|
|
|
R8227:Atp13a4
|
UTSW |
16 |
29,403,845 (GRCm38) |
missense |
|
|
|
R8273:Atp13a4
|
UTSW |
16 |
29,471,902 (GRCm38) |
missense |
|
|
|
R8488:Atp13a4
|
UTSW |
16 |
29,417,836 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8508:Atp13a4
|
UTSW |
16 |
29,454,769 (GRCm38) |
nonsense |
probably null |
|
|
R8773:Atp13a4
|
UTSW |
16 |
29,441,580 (GRCm38) |
missense |
|
|
|
R8921:Atp13a4
|
UTSW |
16 |
29,454,774 (GRCm38) |
missense |
|
|
|
R8940:Atp13a4
|
UTSW |
16 |
29,454,690 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9056:Atp13a4
|
UTSW |
16 |
29,471,888 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9272:Atp13a4
|
UTSW |
16 |
29,449,979 (GRCm38) |
missense |
|
|
|
R9292:Atp13a4
|
UTSW |
16 |
29,422,682 (GRCm38) |
missense |
|
|
|
R9415:Atp13a4
|
UTSW |
16 |
29,409,003 (GRCm38) |
missense |
|
|
|
R9453:Atp13a4
|
UTSW |
16 |
29,420,841 (GRCm38) |
missense |
unknown |
|
|
R9497:Atp13a4
|
UTSW |
16 |
29,469,312 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9541:Atp13a4
|
UTSW |
16 |
29,422,726 (GRCm38) |
missense |
|
|
|
R9614:Atp13a4
|
UTSW |
16 |
29,441,580 (GRCm38) |
missense |
|
|
|
R9622:Atp13a4
|
UTSW |
16 |
29,420,459 (GRCm38) |
missense |
|
|
|
R9727:Atp13a4
|
UTSW |
16 |
29,409,771 (GRCm38) |
missense |
|
|
|
Z1176:Atp13a4
|
UTSW |
16 |
29,422,587 (GRCm38) |
missense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAACCAACTGCTCATAGGTGC -3'
(R):5'- GGCTCTGAGGAAGGTGATGCTATTC -3'
Sequencing Primer
(F):5'- TTGCAAACCACATCCTTGAATAAG -3'
(R):5'- ttgccaaaagagattgtgacc -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation